Linked Data
dbSNP Id:
rs772772624
ExAC:
22:19711861 G / C
gnomAD v2:
22-19711861-G-C
gnomAD v3:
22-19724338-G-C
gnomAD v4:
22-19724338-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724338G>C , CM000684.2:g.19724338G>C | GRCh38 |
| NC_000022.10:g.19711861G>C , CM000684.1:g.19711861G>C | GRCh37 |
| NC_000022.9:g.18091861G>C | NCBI36 |
| NG_007974.1:g.5796G>C , LRG_478:g.5796G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.495G>C (GP1BB) MANE Select | ENSP00000383382.2:p.Ala165= | |
| ENST00000366425.3:c.495G>C (GP1BB) | ENSP00000383382.2:p.Ala165= | |
| ENST00000431044.5:c.*1580G>C (SEPTIN5) | ENSP00000399685.1:n.*1580G>C | |
| NM_000407.4:c.495G>C , LRG_478t1:c.495G>C (GP1BB) | NP_000398.1:p.Ala165= | |
| NR_037611.1:n.4235G>C | ||
| NR_037612.1:n.2739G>C | ||
| NM_000407.5:c.495G>C (GP1BB) MANE Select | NP_000398.1:p.Ala165= |